Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.44908905_44908924del | CA2695228869 | APOE | c.609_628del (p.Glu204ArgfsTer?) c.687_706del (p.Glu230ArgfsTer?) | |
19 | g.44908920G>A | CA507947461 | APOE | c.624G>A (p.Val208=) c.702G>A (p.Val234=) | |
19 | g.44908920G>C | CA507947462 | APOE | c.624G>C (p.Val208=) c.702G>C (p.Val234=) | |
19 | g.44908920G>T | CA507947463 | APOE | c.624G>T (p.Val208=) c.702G>T (p.Val234=) | |
19 | g.44908921C>A | CA507947464 | APOE | c.625C>A (p.Arg209=) c.703C>A (p.Arg235=) | |
19 | g.44908921C= | CA2338167962 | APOE | c.625C= (p.Arg209=) c.703C= (p.Arg235=) | |
19 | g.44908921C>G | CA406304421 | APOE | c.625C>G (p.Arg209Gly) c.703C>G (p.Arg235Gly) | |
19 | g.44908921C>T | CA406304422 | APOE | c.625C>T (p.Arg209Trp) c.703C>T (p.Arg235Trp) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.44908922G>A | CA308885916 | APOE | c.626G>A (p.Arg209Gln) c.704G>A (p.Arg235Gln) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.44908922G>C | CA406304424 | APOE | c.626G>C (p.Arg209Pro) c.704G>C (p.Arg235Pro) | dbSNP |
19 | g.44908922G= | CA2338167963 | APOE | c.626G= (p.Arg209=) c.704G= (p.Arg235=) | |
19 | g.44908922G>T | CA406304425 | APOE | c.626G>T (p.Arg209Leu) c.704G>T (p.Arg235Leu) | gnomAD v4 |
19 | g.44908924del | CA2585715453 | APOE | c.628del (p.Ala210ProfsTer?) c.706del (p.Ala236ProfsTer?) | gnomAD v4 |
19 | g.44908923G>A | CA9506084 | APOE | c.627G>A (p.Arg209=) c.705G>A (p.Arg235=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.44908923G>C | CA507947467 | APOE | c.627G>C (p.Arg209=) c.705G>C (p.Arg235=) | |
19 | g.44908923G= | CA2338167964 | APOE | c.627G= (p.Arg209=) c.705G= (p.Arg235=) | |
19 | g.44908923G>T | CA507947469 | APOE | c.627G>T (p.Arg209=) c.705G>T (p.Arg235=) | gnomAD v4 |
19 | g.44908924G>A | CA406304428 | APOE | c.628G>A (p.Ala210Thr) c.706G>A (p.Ala236Thr) | gnomAD v4 |
19 | g.44908924G>C | CA406304432 | APOE | c.628G>C (p.Ala210Pro) c.706G>C (p.Ala236Pro) | |
19 | g.44908924G>T | CA406304433 | APOE | c.628G>T (p.Ala210Ser) c.706G>T (p.Ala236Ser) | gnomAD v4 |
19 | g.44908925C>A | CA406304437 | APOE | c.629C>A (p.Ala210Asp) c.707C>A (p.Ala236Asp) | |
19 | g.44908925C>G | CA406304438 | APOE | c.629C>G (p.Ala210Gly) c.707C>G (p.Ala236Gly) | |
19 | g.44908925C>T | CA406304435 | APOE | c.629C>T (p.Ala210Val) c.707C>T (p.Ala236Val) | |
19 | g.44908926C>A | CA507947472 | APOE | c.630C>A (p.Ala210=) c.708C>A (p.Ala236=) | |
19 | g.44908926C= | CA2338167965 | APOE | c.630C= (p.Ala210=) c.708C= (p.Ala236=) | |
19 | g.44908926C>G | CA507947473 | APOE | c.630C>G (p.Ala210=) c.708C>G (p.Ala236=) | |
19 | g.44908926C>T | CA507947474 | APOE | c.630C>T (p.Ala210=) c.708C>T (p.Ala236=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.44908927G>A | CA406304440 | APOE | c.631G>A (p.Ala211Thr) c.709G>A (p.Ala237Thr) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.44908927G>C | CA406304441 | APOE | c.631G>C (p.Ala211Pro) c.709G>C (p.Ala237Pro) | |
19 | g.44908927G= | CA2338167966 | APOE | c.631G= (p.Ala211=) c.709G= (p.Ala237=) | |
19 | g.44908927G>T | CA406304442 | APOE | c.631G>T (p.Ala211Ser) c.709G>T (p.Ala237Ser) | gnomAD v4 |
19 | g.44908928C>A | CA406304444 | APOE | c.632C>A (p.Ala211Asp) c.710C>A (p.Ala237Asp) | |
19 | g.44908928C>G | CA406304445 | APOE | c.632C>G (p.Ala211Gly) c.710C>G (p.Ala237Gly) | |
19 | g.44908928C>T | CA406304447 | APOE | c.632C>T (p.Ala211Val) c.710C>T (p.Ala237Val) | |
19 | g.44908929C>A | CA507947477 | APOE | c.633C>A (p.Ala211=) c.711C>A (p.Ala237=) | |
19 | g.44908929C>G | CA507947480 | APOE | c.633C>G (p.Ala211=) c.711C>G (p.Ala237=) | |
19 | g.44908929C>T | CA507947476 | APOE | c.633C>T (p.Ala211=) c.711C>T (p.Ala237=) | |
19 | g.44908930A>C | CA406304451 | APOE | c.634A>C (p.Thr212Pro) c.712A>C (p.Thr238Pro) | |
19 | g.44908930A>G | CA406304448 | APOE | c.634A>G (p.Thr212Ala) c.712A>G (p.Thr238Ala) | gnomAD v4 |
19 | g.44908930A>T | CA406304449 | APOE | c.634A>T (p.Thr212Ser) c.712A>T (p.Thr238Ser) | |
19 | g.44908931C>A | CA406304452 | APOE | c.635C>A (p.Thr212Asn) c.713C>A (p.Thr238Asn) | |
19 | g.44908931C>G | CA406304454 | APOE | c.635C>G (p.Thr212Ser) c.713C>G (p.Thr238Ser) | |
19 | g.44908931C>T | CA406304455 | APOE | c.635C>T (p.Thr212Ile) c.713C>T (p.Thr238Ile) | |
19 | g.44908931_44908934del | CA2695228870 | APOE | c.635_638del (p.Thr212ArgfsTer?) c.713_716del (p.Thr238ArgfsTer?) | |
19 | g.44908932_44908941del | CA2580612068 | APOE | c.636_645del (p.Val213TrpfsTer?) c.714_723del (p.Val239TrpfsTer?) c.636_645del (p.Thr212=) | |
19 | g.44908932T>A | CA507947488 | APOE | c.636T>A (p.Thr212=) c.714T>A (p.Thr238=) | |
19 | g.44908932T>C | CA507947485 | APOE | c.636T>C (p.Thr212=) c.714T>C (p.Thr238=) | gnomAD v4 |
19 | g.44908932T>G | CA507947486 | APOE | c.636T>G (p.Thr212=) c.714T>G (p.Thr238=) | |
19 | g.44908933G>A | CA406304457 | APOE | c.637G>A (p.Val213Met) c.715G>A (p.Val239Met) | |
19 | g.44908933G>C | CA406304458 | APOE | c.637G>C (p.Val213Leu) c.715G>C (p.Val239Leu) |